Dominant Monogenic Conditions
Conditions
Interventions
Gold Standard:Results of prenatal diagnosis and neonatal follow-up
Index test:noninvasive prenatal screening for dominant monogenic diseases
Sponsors
West China Second University Hospital,Sichuan University
Eligibility
Sex/Gender
Female
Age
20 Years to 50 Years
Inclusion criteria
Inclusion criteria: 1. Inclusion criteria: Singleton pregnant women with a gestational age = 12+0 weeks who meet the following criteria can be included: 1.1Fetal anomalies on ultrasound screening (1) Fetal structural anomalies detected on ultrasound; (2)Fetus with ultrasonographic soft markers(thickened nuchal translucency, bilateral ventriculomegaly, short femur length, etc.). 1.2 The other group (1) Elderly couples (women = 35 years old and/or men = 40 years old); (2) A family history of genetic disease; (3) A history of adverse pregnancy; (4) No other indication of risk.
Exclusion criteria
Exclusion criteria: 2. Exclusion criteria: (1) Gestational age 40); (5) One of the couples has or is suspected to have chromosomal abnormalities; (6) Pregnant women clearly suffer from 66 dominant single-gene diseases related to 34 genes in this study; (7) Allogeneic blood transfusion, transplantation, or allogeneic cell therapy within one year; (8) Malignant tumors during pregnancy.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| sensitivity;specificity;positive predictive value; | — |
Countries
China
Contacts
Public ContactShanling Liu
West China Second University Hospital,Sichuan University
Outcome results
None listed